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sickle disease case
1. DEPARMENT OF
BIOCHEMISTRY
LABORATORY
SHAH, NITI KUMAR CASE-5
SAPKOTA,RAJITA
RAJBANSI,BIJAY
PATEL,BIR BAHADUR
RAI,NAKUL
SAH,PANKAJ
SAID,ABDIKANI
SHIRE,AHMED
ROSAURO GOLDEE MEIR
CHARLINE S. PEPITO
GROUP – FIVE SECTION - F
2. CASE
A 15-year old African-American female
presents to the emergency room with
complaints of bilateral thigh and him pain.
The has been present been present for one
day and is steadily increasing in severity.
Acetaminophen and ibuprofen have not
relieved her symptoms. she denies any
recent trauma or excessive exercise . She
does report feeling fatigued and has been
having burning with urination along with
urinating frequently. She reports having
similar pain episode in the past, sometimes
requiring hospitalization. On examination, she
2
3. In no acute distress. No one in her family has
similar episode. Her conjunctiva and mucosal
membrane are slightly pale in coloration. She
has nonspecific bilateral anterior with no
abnormalities appreciated. The remainder of
her examination is completely normal. Her
white blood count is elevated at 17,000/m m 3 ,
and her hemoglobin(Hb) level is decreased at
7.1g/dl. The urinalysis demonstrated an
abnormal number of numerous bacteria.
4. What is likely diagnosis?
What is the molecular genetics behind thus
disorder ?
What is the pathophysiology mechanism of
her symptoms ?
5. Answers
Most likely diagnosis: Sickle cell disease (pain
crisis).
Biochemical mechanism of disease: Single
amino acid substitution on hemoglobin beta
chain, inherited in an autosomal recessive
fashion (1 of 12 African Americans in United
States are carriers of the trait).
Pathophysiologic mechanism of symptoms: The
sickled red blood cells cause infarction of bone,
lung, kidney, and other tissue from
vasoocclusion.
6. Clinical correlation
This 15-year-old female’s description of her
pain is typical of a sickle cell pain crisis.
This case is consistent with a urinary tract
infection, indicated by her symptoms of urinary
frequency, and burning with urination
(dysuria).
Her white blood cell count is elevated in
response to the infection. The low hemoglobin
level is consistent with sickle cell anemia.
7. Discussion
Sickle cell anemia is a disease in which the
body makes sickle-shaped red blood cells
Red blood cells contain an iron-rich protein
called hemoglobin. This protein carries oxygen
from the lungs to the rest of the body
Normal hemoglobin has four subunits called
globins. Adult hemoglobin has two a (a1 and a2)
and two b (b1 and b2) globin chains.
Each globin chain has an associated heme
prosthetic group, which is the site of oxygen
binding and release.
8. Pathophysiology
Sickle cell anemia results from the nonconservative
substitution of valine for glutamate at residue 6 (Val-6) in the
b-chain of hemoglobin.
The β-globin gene is found on the short arm of
chromosome11.
The association of two wild-type α-globin subunits with two
mutant β-globin subunits forms haemoglobin S (HbS).
Under low-oxygen conditions (being at high altitude, for
example), the absence of a polar amino acid (Glutamate) at
position six of the β-globin chain promotes the non-covalent
polymerisation (aggregation) of haemoglobin, which distorts
red blood cells into a sickle shape and decreases their
elasticity.
9. Loss of oxygen.
Polymers or rigid
rodsleading to sickled
RBCs
RBCs Stick to blood
vessels
Stasis
Hypoxia
Pain ( vaso-occlusive
crisis)
10. Diagnosis
Diagnosis of sickle cell disease and
sickle cell trait can be done through
blood testing.
A special technique is also used called
hemoglobin electrophoresis
Hemoglobin Electrophoresis: A small
blood sample is taken and sent to a
laboratory where the percentage of
normal and abnormal hemoglobin is
measured.
11. Signs and symptoms
The most common symptom of anemia is fatigue
(feeling tired or weak). Other signs and symptoms
of anemia include:
Shortness of breath
Headaches
Coldness in the hands and feet
Jaundice (a yellowish color of the skin or whites of
the eyes)
Hand –foot syndrome due to the blockage of blood
vessels in the hands and feet.
Organs like spleen and liver also damages.
12. Treatment
Treatment of sickle cell anemia includes:
pain medications (for example, morphine).
Anti-inflammatory medications (for example,
ibuprofen).
Antibiotics for infection.
Intravenous or oral fluids.
Transfusions of red blood cells are given for
anemia.
Stem cell transplant is performed in young
patients with severe sickle cell disease.
13. Prevention
Genetic screening
Testing for sickle cells in babies.
Chronic vill sampling
Amniotic fluid sampling
Fetal blood samplin
Daily penicillin for newborn babies with the
disease.
14. Prognosis
Patients receiving proper medical care
may learn to lead relatively normal life.
Average life expectancy of patients suffering
from is
Male = 42 years
Female = 48 years
Editor's Notes
In beta chain a single nucleotide is change, from GAG TO GTG.
GAG codon code glutamic acid and GTG code valine. So here the whole protein structure is change and this type of mutation is called miss sense mutation